" /> Biotin-Thiamine-Responsive Basal Ganglia Disease - CISMeF





Preferred Label : Biotin-Thiamine-Responsive Basal Ganglia Disease;

NCIt synonyms : BTBGD; Thiamine Metabolism Dysfunction Syndrome-2; THMD2;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the SLC19A3 gene, encoding thiamine transporter 2. It is characterized by episodic encephalopathy, which may present with a variety of clinical features, and is responsive to high doses of biotin and/or thiamine.;

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30/07/2025


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